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Haploinsufficiency model of dominant genetic disorders. A+ is a normal allele. A− is a mutant allele with little or no function. In haplosufficiency (most genes), a single normal allele provides enough function, so A+A− individuals are healthy. In haploinsufficiency, a single normal allele does not provide enough function, so A+A− individuals have a genetic disorder.
Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. Haploinsufficiency may arise from a de novo or inherited loss-of-function mutation in the variant allele, such that it yields little or no gene product (often a protein). Although the other, standard allele still produces the standard amount of product, the total product is insufficient to produce the standard phenotype. This heterozygous genotype may result in a non- or sub-standard, deleterious, and (or) disease phenotype. Haploinsufficiency is the standard explanation for dominant deleterious alleles.[clarification needed]
In the alternative case of haplosufficiency, the loss-of-function allele behaves as above, but the single standard allele in the heterozygous genotype produces sufficient gene product to produce the same, standard phenotype as seen in the homozygote. Haplosufficiency accounts for the typical dominance of the "standard" allele over variant alleles, where the phenotypic identity of genotypes heterozygous and homozygous for the allele defines it as dominant, versus a variant phenotype produced only by the genotype homozygous for the alternative allele, which defines it as recessive.
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Haploinsufficiency of A20 is a rare disease caused by mutations in the gene TNFAIP3. This gene is also known as A20. These are variable even within families...
for health. This is called haploinsufficiency. For instance, a single copy of the Kmt5b gene leads to haploinsufficiency and results in a skeletal muscle...
gene expression and can result in SON haploinsufficiency. ZTTK syndrome individuals with SON haploinsufficiency display decreased mRNA expression and...
Robin. While Nager syndrome is thought to be most often caused by haploinsufficiency of the spliceosomal factor SF3B4, in over one third of patients tested...
ribosome assembly. Mutations in TCOF1 lead to haploinsufficiency of the treacle protein. Haploinsufficiency occurs when a diploid organism has only one...
One proposal states that the depolarization of astrocytes caused by haploinsufficiency of the ATP1A2 Na+ /K+ -ATPase causes increased release of compounds...
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gene product is not enough for a normal phenotype (this is called haploinsufficiency). A disease that is caused by a loss-of-function mutation is Gitelman...
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its cause is not known. The main mechanism is thought to involve haploinsufficiency caused by mutations in CBFA1 (also known as Runx2), a gene located...
Lymphotoxin beta receptor, Nucleoporin 62, RANK, TANK, and TNFSF14. Haploinsufficiency of TRAF3 in humans is associated with various immunodeficiency and...
region appear to play a role in the pathogenesis of 5q-syndrome. Haploinsufficiency of RPS14 plays a central role, and contributes to the anemia via both...
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